E14D (p.Glu14Asp) variant of SOS2 (Son of sevenless homolog 2)
E14D (p.Glu14Asp) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs2503346950
- ClinGen CA389657541
- ClinVar RCV003066958
- Uncertain significance
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.39
- MetaLR 0.51
- MetaSVM -0.21
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (Noonan syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)